Incidental Mutation 'IGL02257:Sox9'
| ID |
286639 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sox9
|
| Ensembl Gene |
ENSMUSG00000000567 |
| Gene Name |
SRY (sex determining region Y)-box 9 |
| Synonyms |
2010306G03Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02257
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
112673050-112678586 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 112675811 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 333
(H333Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000579]
|
| AlphaFold |
Q04887 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000000579
AA Change: H333Q
PolyPhen 2
Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000000579
Gene: ENSMUSG00000000567
AA Change: H333Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sox_N
|
22 |
94 |
9.6e-29 |
PFAM |
|
HMG
|
104 |
174 |
2.34e-27 |
SMART |
|
low complexity region
|
186 |
196 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
241 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
377 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137081
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene recognizes the sequence CCTTGAG along with other members of the HMG-box class DNA-binding proteins. It acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone (AMH) gene. Deficiencies lead to the skeletal malformation syndrome campomelic dysplasia, frequently with sex reversal. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null mutant heterozygotes and conditional knockout mutants display perinatal lethality with cleft palate, hypoplasia and distortion of numerous cartilage-derived skeletal structures, and premature mineralization in many bones. Specific conditional knockout mutations are sex-reversed. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
C |
T |
11: 116,486,535 (GRCm39) |
Q25* |
probably null |
Het |
| Adam8 |
A |
T |
7: 139,567,561 (GRCm39) |
V394D |
possibly damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,748,905 (GRCm39) |
F314S |
possibly damaging |
Het |
| Arsg |
T |
C |
11: 109,412,473 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
T |
G |
4: 140,733,400 (GRCm39) |
V958G |
probably benign |
Het |
| Ces5a |
T |
C |
8: 94,252,226 (GRCm39) |
D218G |
probably benign |
Het |
| Cntnap4 |
T |
A |
8: 113,343,126 (GRCm39) |
L63Q |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,145,606 (GRCm39) |
T655A |
possibly damaging |
Het |
| Ddc |
A |
T |
11: 11,823,171 (GRCm39) |
L133* |
probably null |
Het |
| Fat4 |
C |
T |
3: 39,055,288 (GRCm39) |
A4169V |
probably benign |
Het |
| Gnpat |
T |
C |
8: 125,613,587 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
A |
G |
2: 57,254,536 (GRCm39) |
D678G |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,107,422 (GRCm39) |
D851G |
probably benign |
Het |
| Hsd11b2 |
G |
A |
8: 106,249,854 (GRCm39) |
V322I |
probably benign |
Het |
| Hsd17b3 |
G |
A |
13: 64,207,276 (GRCm39) |
T255M |
probably benign |
Het |
| Hsp90b1 |
T |
C |
10: 86,534,453 (GRCm39) |
S284G |
probably damaging |
Het |
| Med1 |
T |
A |
11: 98,071,096 (GRCm39) |
I69L |
probably damaging |
Het |
| Mmut |
C |
T |
17: 41,249,625 (GRCm39) |
T200I |
possibly damaging |
Het |
| Morn3 |
T |
G |
5: 123,175,788 (GRCm39) |
D200A |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,828,394 (GRCm39) |
V173A |
probably damaging |
Het |
| Myl6b |
T |
C |
10: 128,333,210 (GRCm39) |
|
probably benign |
Het |
| Nin |
A |
G |
12: 70,149,465 (GRCm39) |
V48A |
possibly damaging |
Het |
| Odr4 |
A |
T |
1: 150,262,155 (GRCm39) |
I95N |
probably damaging |
Het |
| Or10w1 |
G |
A |
19: 13,632,629 (GRCm39) |
V279I |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Phlpp2 |
T |
A |
8: 110,646,731 (GRCm39) |
V529E |
possibly damaging |
Het |
| Pnlip |
G |
A |
19: 58,662,306 (GRCm39) |
V151I |
probably benign |
Het |
| Pus7 |
A |
C |
5: 23,967,459 (GRCm39) |
H247Q |
probably damaging |
Het |
| Setd6 |
T |
C |
8: 96,443,320 (GRCm39) |
Y188H |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,061,328 (GRCm39) |
S444P |
probably benign |
Het |
| Specc1 |
T |
A |
11: 62,009,243 (GRCm39) |
I333N |
probably damaging |
Het |
| Tmprss11e |
G |
A |
5: 86,872,039 (GRCm39) |
T59I |
probably damaging |
Het |
| Vmn2r93 |
A |
C |
17: 18,545,770 (GRCm39) |
|
probably benign |
Het |
| Vrk2 |
A |
T |
11: 26,484,266 (GRCm39) |
V163D |
probably damaging |
Het |
|
| Other mutations in Sox9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01916:Sox9
|
APN |
11 |
112,675,500 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02935:Sox9
|
APN |
11 |
112,676,175 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0350:Sox9
|
UTSW |
11 |
112,675,702 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0634:Sox9
|
UTSW |
11 |
112,675,768 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4273:Sox9
|
UTSW |
11 |
112,675,980 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4692:Sox9
|
UTSW |
11 |
112,673,803 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5328:Sox9
|
UTSW |
11 |
112,673,484 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5501:Sox9
|
UTSW |
11 |
112,674,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5905:Sox9
|
UTSW |
11 |
112,674,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6707:Sox9
|
UTSW |
11 |
112,673,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6834:Sox9
|
UTSW |
11 |
112,674,826 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7897:Sox9
|
UTSW |
11 |
112,675,635 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9037:Sox9
|
UTSW |
11 |
112,675,650 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9485:Sox9
|
UTSW |
11 |
112,673,705 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9511:Sox9
|
UTSW |
11 |
112,676,001 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9606:Sox9
|
UTSW |
11 |
112,673,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Sox9
|
UTSW |
11 |
112,675,948 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
Z1177:Sox9
|
UTSW |
11 |
112,675,629 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
| Posted On |
2015-04-16 |
Incidental Mutation